Canonical Allele Identifier: PA2827015542
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49498
ClinVar RCV Id: RCV000042758 RCV002250506
ClinVar Variation Id: 1390361
ClinVar RCV Id: RCV001889529
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Gln1259His
CA020576
NM_001318831.2:c.3777G>T
CA394302743
NM_001318831.2:c.3777G>C